Varaico: Literature-Extracted Genetic Variants

RECQL4

846 papers

RefSeq Summary

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation....

Pfam Domains

Drc1-Sld2aa 4–155UCSCDNA replication and checkpoint protein

DEADaa 125–295UCSCDEAD/DEAH box helicase

Helicase_Caa 326–452UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

RecQ like helicase 4

HGNC Alias Symbol

RecQ4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004260.4

p.K332N

c.996G>C

Surrounding Variants

2 papers

NM_004260.4

p.K332N

c.996G>T

1 paper

NM_004260.4

p.A333V

c.998C>T

2 papers

NM_004260.4

p.E334*

c.1000G>T

1 paper

NM_004260.4

p.A330insFs

c.988dupG

1 paper

NM_004260.4

p.G335Fs

c.1003delinsGAFs

1 paper

NM_004260.4

p.A330insFs

c.988_989insA

1 paper

NM_004260.4

p.R329_A330insFs

c.987_988insAA

1 paper

NM_004260.4

p.G335_T336insFs

c.1005_1006ins32

1 paper

NM_004260.4

p.Q327P

c.980A>C

1 paper

NM_004260.4

p.S326_Q327Fs

c.978_979delinsGFs

1 paper

NM_004260.4

p.L339fs

c.1015_1016fs

1 paper

NM_004260.4

p.L339insFs

c.1015dupC